Fascicolo 3-2019

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Original article

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

Mashael Alfarih^{1 2 3}, Petros Syrris², Eloisa Arbustini⁴, João B. Augusto^{1 2}, Alun Hughes^{2 5}, Guy Lloyd^{1 2}, Luis R. Lopes^{1 2}, James C. Moon^{1 2}, Saidi Mohiddin¹ and Gabriella Captur^{1 2 5 6}

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

Stojan Peric^{1 *}, Jelena Stevanovic^{1 *}, Katherine Johnson², Ana Kosac³, Marina Peric⁴, Marija Brankovic¹, Ana Marjanovic¹, Milena Jankovic¹, Bojan Banko⁵, Sanja Milenkovic⁶, Milica Durdic⁵, Ivo Bozovic¹, Jelena Nikodinovic Glumac³, Dragana Lavrnic², Ruzica Maksimovic⁵, Vedrana Milic-Rasic³ and Vidosava Rakocevic-Stojanovic¹

Current and emerging therapies in Becker muscular dystrophy (BMD)

Corrado Angelini, Roberta Marozzo and Valentina Pegoraro

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Rita Machado¹, Jorge Pinto-Basto² and Luís Negrão¹

Case report

Acute sensorimotor polyneuropathy as an early sign of polyarteritis nodosa. A case report

Valery M. Kazakov^{1 2}, Dmitry I. Rudenko^{1 2}, Tima R. Stuchevskaya^{1 2/sup>, Oxana V. Posokhina^{1 2}, Alexander A. Skoromets¹ and Semen V. Perfilyev¹}

Fascicolo 3-2019

Scarica il PDF del Fascicolo

Original article

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

Current and emerging therapies in Becker muscular dystrophy (BMD)

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Case report

Acute sensorimotor polyneuropathy as an early sign of polyarteritis nodosa. A case report

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